Incidental Mutation 'R2435:Unc93b1'
ID 249566
Institutional Source Beutler Lab
Gene Symbol Unc93b1
Ensembl Gene ENSMUSG00000036908
Gene Name unc-93 homolog B1, TLR signaling regulator
Synonyms
MMRRC Submission 040396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2435 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 3985222-3999340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3986373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 136 (I136V)
Ref Sequence ENSEMBL: ENSMUSP00000128751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162708] [ENSMUST00000165711]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162193
Predicted Effect possibly damaging
Transcript: ENSMUST00000162708
AA Change: I136V

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124272
Gene: ENSMUSG00000036908
AA Change: I136V

DomainStartEndE-ValueType
low complexity region 66 78 N/A INTRINSIC
transmembrane domain 81 103 N/A INTRINSIC
Pfam:UNC-93 135 214 1.6e-8 PFAM
transmembrane domain 238 260 N/A INTRINSIC
transmembrane domain 306 328 N/A INTRINSIC
transmembrane domain 364 386 N/A INTRINSIC
transmembrane domain 396 418 N/A INTRINSIC
transmembrane domain 423 445 N/A INTRINSIC
transmembrane domain 460 482 N/A INTRINSIC
transmembrane domain 494 513 N/A INTRINSIC
transmembrane domain 518 535 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165711
AA Change: I136V

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128751
Gene: ENSMUSG00000036908
AA Change: I136V

DomainStartEndE-ValueType
low complexity region 66 78 N/A INTRINSIC
transmembrane domain 81 103 N/A INTRINSIC
Pfam:UNC-93 135 214 5.1e-9 PFAM
transmembrane domain 243 265 N/A INTRINSIC
transmembrane domain 305 327 N/A INTRINSIC
transmembrane domain 367 389 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,898,294 (GRCm39) T226I probably benign Het
Acvr1 T C 2: 58,369,704 (GRCm39) N102D probably damaging Het
Cd34 T A 1: 194,621,334 (GRCm39) C21S probably damaging Het
Cdh18 C T 15: 23,367,094 (GRCm39) R267W probably damaging Het
Ckap5 T A 2: 91,411,490 (GRCm39) N966K probably benign Het
Clec4e A G 6: 123,265,855 (GRCm39) V44A probably damaging Het
Cubn T A 2: 13,323,083 (GRCm39) N2828I probably damaging Het
Dnah10 G T 5: 124,839,929 (GRCm39) probably null Het
Fshr A T 17: 89,508,024 (GRCm39) V6D unknown Het
Gcc2 A G 10: 58,130,602 (GRCm39) D1398G probably damaging Het
Gpi1 G A 7: 33,905,254 (GRCm39) A390V probably damaging Het
Gypa G T 8: 81,233,397 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifna13 T A 4: 88,562,366 (GRCm39) Q86L probably damaging Het
Itgae T A 11: 73,012,763 (GRCm39) C698* probably null Het
Ivns1abp T C 1: 151,239,061 (GRCm39) V625A probably benign Het
Kcnh2 A G 5: 24,531,345 (GRCm39) probably null Het
Kcnj6 G A 16: 94,563,538 (GRCm39) T320M probably damaging Het
Mblac2 T C 13: 81,898,368 (GRCm39) I248T probably damaging Het
Muc5ac A T 7: 141,371,841 (GRCm39) Y2647F possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4k15 T C 14: 50,364,211 (GRCm39) M59T probably damaging Het
Or6c217 G T 10: 129,738,173 (GRCm39) N135K possibly damaging Het
Pard3b T A 1: 62,626,897 (GRCm39) V1059E probably damaging Het
Pkd1l3 A C 8: 110,377,334 (GRCm39) I1585L probably benign Het
Pramel31 A T 4: 144,089,473 (GRCm39) I264F possibly damaging Het
Prrc2b A T 2: 32,109,741 (GRCm39) S1791C probably damaging Het
Rbmxl2 C A 7: 106,809,538 (GRCm39) S274R probably damaging Het
Serpini2 T C 3: 75,165,475 (GRCm39) E168G probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sis A G 3: 72,819,237 (GRCm39) S1440P probably benign Het
Snrnp40 A G 4: 130,278,344 (GRCm39) H283R probably damaging Het
Tcaf2 G T 6: 42,607,298 (GRCm39) Q219K possibly damaging Het
Tenm3 C T 8: 48,740,988 (GRCm39) R803H probably damaging Het
Ugt2b5 T C 5: 87,287,465 (GRCm39) D234G probably damaging Het
Unc13d A G 11: 115,959,514 (GRCm39) F653S probably damaging Het
Utp20 A G 10: 88,656,753 (GRCm39) S151P possibly damaging Het
Vmn2r50 C A 7: 9,787,026 (GRCm39) W27L probably benign Het
Zan T C 5: 137,436,836 (GRCm39) S2006G unknown Het
Other mutations in Unc93b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Unc93b1 APN 19 3,985,356 (GRCm39) splice site probably null
IGL02631:Unc93b1 APN 19 3,992,026 (GRCm39) splice site probably benign
IGL02942:Unc93b1 APN 19 3,998,686 (GRCm39) missense probably damaging 1.00
IGL03149:Unc93b1 APN 19 3,994,041 (GRCm39) missense probably benign
3d UTSW 19 3,994,168 (GRCm39) missense possibly damaging 0.96
novelty UTSW 19 3,993,632 (GRCm39) missense probably damaging 1.00
speciality UTSW 19 3,991,910 (GRCm39) missense possibly damaging 0.51
R0680:Unc93b1 UTSW 19 3,997,093 (GRCm39) missense probably benign
R1237:Unc93b1 UTSW 19 3,985,228 (GRCm39) missense possibly damaging 0.72
R1557:Unc93b1 UTSW 19 3,992,403 (GRCm39) missense probably benign 0.13
R1992:Unc93b1 UTSW 19 3,994,062 (GRCm39) missense probably benign 0.00
R4016:Unc93b1 UTSW 19 3,993,572 (GRCm39) missense probably damaging 1.00
R4080:Unc93b1 UTSW 19 3,991,959 (GRCm39) missense probably damaging 0.99
R4479:Unc93b1 UTSW 19 3,985,236 (GRCm39) missense probably benign 0.16
R4829:Unc93b1 UTSW 19 3,994,293 (GRCm39) missense probably damaging 1.00
R4947:Unc93b1 UTSW 19 3,985,871 (GRCm39) missense probably benign 0.05
R4964:Unc93b1 UTSW 19 3,992,023 (GRCm39) splice site probably null
R4966:Unc93b1 UTSW 19 3,992,023 (GRCm39) splice site probably null
R5056:Unc93b1 UTSW 19 3,992,762 (GRCm39) missense possibly damaging 0.45
R5166:Unc93b1 UTSW 19 3,994,027 (GRCm39) missense probably damaging 1.00
R5441:Unc93b1 UTSW 19 3,993,703 (GRCm39) missense probably benign 0.01
R5892:Unc93b1 UTSW 19 3,993,632 (GRCm39) missense probably damaging 1.00
R6382:Unc93b1 UTSW 19 3,985,297 (GRCm39) missense probably benign 0.19
R6556:Unc93b1 UTSW 19 3,994,105 (GRCm39) missense probably benign
R6962:Unc93b1 UTSW 19 3,986,303 (GRCm39) missense possibly damaging 0.57
R7143:Unc93b1 UTSW 19 3,985,204 (GRCm39) missense unknown
R7748:Unc93b1 UTSW 19 3,985,250 (GRCm39) missense unknown
R7866:Unc93b1 UTSW 19 3,985,243 (GRCm39) missense not run
R8198:Unc93b1 UTSW 19 3,991,910 (GRCm39) missense possibly damaging 0.51
R9212:Unc93b1 UTSW 19 3,993,557 (GRCm39) missense probably damaging 1.00
R9503:Unc93b1 UTSW 19 3,986,373 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- ACGGGAGTCTTGTTCTTATCC -3'
(R):5'- AAACAAGCAAGGCCTCTCTG -3'

Sequencing Primer
(F):5'- ATCCTGGTCCTGATGAATACAG -3'
(R):5'- AGCAAGGCCTCTCTGCAGTTC -3'
Posted On 2014-11-12